Ontology highlight
ABSTRACT:
SUBMITTER: Ayers KL
PROVIDER: S-EPMC7263790 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Ayers Kristin L KL Glicksberg Benjamin S BS Garfield Alastair S AS Longerich Simonne S White Joseph A JA Yang Pengwei P Du Lei L Chittenden Thomas W TW Gulcher Jeffery R JR Roy Sophie S Fiedorek Fred F Gottesdiener Keith K Cohen Sarah S North Kari E KE Schadt Eric E EE Li Shuyu D SD Chen Rong R Van der Ploeg Lex H T LHT
The Journal of clinical endocrinology and metabolism 20180701 7
<h4>Context</h4>The hypothalamic melanocortin 4 receptor (MC4R) pathway serves a critical role in regulating body weight. Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity.<h4>Methods</h4>Through a comprehensive epidemiological analysis of known and predicted LoF variants in the POMC, PCSK1, and LEPR genes, we soug ...[more]